Publication: Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6
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Gerber, C. B., Fliedner, A., Bartsch, O., Berland, S., Dewenter, M., Haug, M., Hayes, I., Marin‐Reina, P., Mark, P. R., Martinez‐Castellano, F., Maystadt, I., Karadurmus, D., Steindl, K., Wiesener, A., Zweier, M., Sticht, H., & Zweier, C. (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102, 182–190. https://doi.org/10.1111/cge.14173
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While inherited hemizygous variants in PHF6 cause X-linked recessive Borjeson-Forssman-Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dysmorphism, dental, finger and toe anomalies and linear skin pigmentation. By personal communication with colleagues, we assembled eleven additional females with BFLS due to variants in PHF6. We confirm the distinct phenotype to include varia
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Gerber, C. B., Fliedner, A., Bartsch, O., Berland, S., Dewenter, M., Haug, M., Hayes, I., Marin‐Reina, P., Mark, P. R., Martinez‐Castellano, F., Maystadt, I., Karadurmus, D., Steindl, K., Wiesener, A., Zweier, M., Sticht, H., & Zweier, C. (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102, 182–190. https://doi.org/10.1111/cge.14173
